New test to better understand cause of childhood deafness within a year

Posted on 03/12/2012

A major advance in the diagnosis of inherited hearing loss has been made as a result of research funded by Action on Hearing Loss.

A new genetic test has been piloted by scientists at the University of Antwerp that will ultimately make it possible to rapidly screen all known deafness genes to give a far more accurate diagnosis of the cause of a hearing loss.

The new test will help parents of a deaf child understand the chances of future siblings also being born deaf. Similar tests are also being developed at Great Ormond Street Hospital for Children, London and should be available to families by late 2013.

Findings published in the American Journal of Medical Genetics

The findings, published today in the American Journal of Medical Genetics, show that by screening just 34 known deafness genes, an accurate diagnosis could be given in roughly half the cases. Ultimately, all known deafness genes could be screened for the same cost as it takes to test one or two genes today.

"New test uses advanced DNA sequencing technology"

Professor Guy Van Camp, who led the project, said: “Using today’s technology only a few of the many deafness genes can be routinely tested, which means that an accurate diagnosis can typically only be given in 10-20% of cases. Our new test uses advanced DNA sequencing technology that can in principle screen all known deafness genes at the same time. It’s a major development from being able to test one or two genes today to being able to screen all known deafness genes in the future.”

Dr Ralph Holme, Action on Hearing Loss’s Head of Biomedical Research, said: “The majority of childhood deafness is inherited and knowing the gene responsible can be incredibly important for parents who want to know the likelihood of subsequent children inheriting deafness. Knowing the cause of a child’s deafness can also make it easier to predict how their hearing loss may change over time and help choose the most appropriate treatment or method of communication. This new test will also be very useful in providing a more accurate picture of the prevalence of different types of deafness affecting people across the UK.”

For information about how we're funding biomedical research to develop treatments to improve the everyday lives of people with hearing loss.

Action on Hearing Loss is the charity working for a world where hearing loss doesn't limit or label people, where tinnitus is silenced – and where people value and look after their hearing. Our vision is to find a cure for hearing loss and tinnitus. We fund research discoveries around the world and break down barriers to translate these discoveries into viable treatments and medicines. We are also increasing the number of researchers in the field through our well established grant schemes, and providing important support for companies wanting to develop medicines and treatments. Read more about our Biomedical Research programme.

The University of Antwerp(external link, opens new window) is a research university, where frontier and innovative research is proceeded. Research and education go hand in hand. We pay continuously attention to education innovation, and we take special care of the reception and supervision of our fifteen thousand students. The University of Antwerp is not an island on her own: we raise a bridge to education, industry, the entire society. With her four thousand employees, the University of Antwerp is one of the most important employers in Antwerp, the biggest city in Flanders.

Great Ormond Street Hospital for Children NHS Foundation Trust is the country’s leading centre for treating sick children, with the widest range of specialists under one roof. With the UCL Institute of Child Health, we are the largest centre for paediatric research outside the US and play a key role in training children’s health specialists for the future.

Registered Office: Action on Hearing Loss is the trading name of the Royal National Institute for Deaf People (RNID). 19-23 Featherstone Street, London, EC1Y 8SL.A company limited by guarantee registered in England and Wales No. 454169, Registered Charity Numbers 207720 (England and Wales) and SC038926 (Scotland).